News Archive

The CNMD Team run the Bupa London 10,00025th May 2014

The CNMD team with their Bupa London 10,000 medals

2014
marks the 30th anniversary of The National Brain Appeal and – for the
sixth consecutive year - Professor Hanna led a Centre for Neuromuscular
Diseases team, the biggest ever, with 16 Centre staff taking part.

We want to continue our vital work, and in particular we
want to raise funds to support more young scientists and doctors to develop
research programmes to find treatments for these serious diseases in the
Centre. But to achieve this we need your help.

The project involved a novel approach to restore muscle function
following motor neuron loss, using a combination of stem cell based
replacement of motor neurons and the revolutionary technique of
optogenetics. Briefly, we have shown that embryonic stem cell-derived
motor neurons (ESC-MNs) can be transplanted into injured peripheral
nerves that have lost their endogenous motor neuron axons, and that these
ESC-MNs can then reinnervate the target muscles.

Click here to view a video from Professor Linda Greensmith's lab explaining the work

NIHR awards £450,000 for research into rare
neuromuscular diseases21
February 2014

The
National Institute of Health Research (NIHR) Rare Diseases Translational Research
Collaboration has awarded £450,000 to extend research into rare neuromuscular diseases.

The award was made to the rare neuromuscular theme which is led by Professor
Michael Hanna, Director of UCL’s Institute of Neurology, where research
projects into Duchenne Muscular Dystrophy (DMD) and inclusion body myositis
(IBM) have been funded.

Professor
Francesco Muntoni, supported by the Great Ormond Street BRC, will study groups
of patients with DMD and measure their particular genetic defects more
precisely.

Professor
Hanna said: “The DMD programme is going to collect large cohorts nationally
through the BRC infrastructure to study their natural history and their
genetics accurately. We aim to understand the variation in disease severity and
assess variations in treatment response in therapeutic trials."

This will
be a valuable step in the translational pathway for DMD patients.

The
second study will explore IBM, an inflammatory muscle disease depicted by
progressive weakness and wasting of both distal and proximal muscles. Professor
Hanna explained how BRC work on stratification of patients based on muscle
biopsy appearances, clinical assessment and MRI evaluation will be valuable in
designing and involving patients in clinical trials.

Based on
the BRC’s strong links with industry it is highly likely trials of two new
agents will be able to start in the next couple of years.

Arimoclomol eased inclusion body myositis in small trial

Arimoclomol
showed promise as a treatment for the most common type of inflammatory
myopathy in adults over age 50 in a 1-year, phase IIa,
"proof-of-concept" study.

Not only was the novel oral agent "well tolerated,"
which was the study’s main objective to assess, but it also showed early
signs that it could be effective in the treatment of patients with
sporadic inclusion body myositis (IBM). Indeed, there was a trend toward slower deterioration in physical function and
muscle strength for arimoclomol when compared against placebo at 8 months’
follow-up.

MRC Centre for Neuromuscular Diseases featured in new UCLH BRC Infrastructure report

Funding from our biomedical research centre (BRC) has been key to bridgingthe gap between basic science and clinical outcomes for some of the mostserious muscle wasting neurological diseases such as muscular dystrophy andperipheral neuropathies. Investment by the BRC into the MRC Centre forNeuromuscular
Diseases at UCL has enabled researchers to build up an invaluable
research infrastructure, a tissue bank, patient cohorts and education
and training.

Genomics England whole genome sequencing – an opportunity for rare disordersGenomics
England is a project set up by the Department of Health that is due to
start in January 2014. The goal is to identify the genetic cause for all
rare genetically undefined disorders and to sequence patients and
families' genomes to help with diagnosis and the development of future
treatments.

This is a very important opportunity for patients with
neuromuscular disorders to have their genome sequenced in order to
maximise their chance of a genetic diagnosis. This will be important for
future treatments. Please click here for further information on how to have your genome sequenced.

The
University of Iowa Department of Neurology is celebrating the recent
expansion of its Neuromuscular Division and the new sister centre
partnership with the National Hospital, Queen Square, London, with an
exciting symposium focusing on the diagnosis, management, and therapies
of genetic diseases of nerve and muscle. Prof Hanna, the MRC Centre
Director gave a guest lecture at its inaugural event, and has been
awarded the honour of Adjunct Professor in
the Faculty of Neurology.

Mike
Hanna receiving his Professorship with Prof George Richerson, Chairman
of Neurology (left) and Prof Mike Shy, Head of the Neuromuscular
Programme (right).

MRC Centenary Year 2013 - Centre Open DayThe MRC Centre for Neuromuscular Diseases celebrated the MRC's Centenary on June 20th. The Centre was thrilled to participate in national celebrations of the MRC Centenary with a specially organised day of events for students from local schools.Students from UCL Academy, and Channing School were invited to attend a special one day programme.

The 2013 meeting was entitled “Novel Molecular Mechanisms of
Neuromuscular Disease: Implications for Therapy”, and brought together
members of the pharmaceutical industry, NIH and academic researchers.

The programme included four major sessions: 1. Novel Molecular Mechanisms:
Implications for Therapy Development - Hereditary Myopathies2. Overcoming Hurdles of Developing and Performing Clinical Trials3.
Novel Molecular Mechanisms: Implications for Therapy Development -
Hereditary Neuropathies4. Disorders of the NMJ: The View from
Oxford

John Morgan Hughes MemorialDr John Morgan-Hughes made outstanding contributions to British and world
neurology as an incisive clinician, a rigorous researcher and an
inspiring teacher. The John Morgan-Hughes Fellowship has been set up in his memory to
support young investigators worldwide undertaking up to one year of
training fellowships or other academic activities focused on
mitochondrial disease research.